MCID: ACH004
MIFTS: 66

Achondroplasia

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Achondroplasia

MalaCards integrated aliases for Achondroplasia:

Name: Achondroplasia 54 12 72 23 50 24 25 56 71 29 13 52 42 14 69
Achondroplastic Dwarfism 50 25 69
Ach 50 25 71
Achondroplastic Physique 12
Osteosclerosis Congenita 12
Dwarf, Achondroplastic 25
Chondrodystrophia 12

Characteristics:

Orphanet epidemiological data:

56
achondroplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Italy),1-9/100000 (Sweden),1-9/100000 (Spain),1-9/100000 (Denmark),1-9/100000 (United States),1-9/100000 (Latin America),1-9/100000 (Australia); Age of onset: Neonatal; Age of death: elderly;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
paternal age effect
autosomal dominant with complete penetrance
80% cases new mutations
99+% of the mutations are fgfr3, g380r


HPO:

32
achondroplasia:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is 100%, meaning that all individuals who have a single copy of one of the fgfr3 pathogenic variants giving rise to achondroplasia have the clinical manifestations of the disorder...

Classifications:



Summaries for Achondroplasia

NIH Rare Diseases : 50 achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. it is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. achondroplasia is caused by mutations in the fgfr3 gene. it is inherited in an autosomal dominant fashion. last updated: 11/12/2015

MalaCards based summary : Achondroplasia, also known as achondroplastic dwarfism, is related to thanatophoric dysplasia, type ii and crouzon syndrome with acanthosis nigricans, and has symptoms including dysarthria, ventriculomegaly and hydrocephalus. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are TGF-Beta Pathway and Phospholipase-C Pathway. The drugs Natriuretic Agents and Natriuretic Peptide, C-Type have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and lung, and related phenotypes are growth/size/body region and craniofacial

UniProtKB/Swiss-Prot : 71 Achondroplasia: A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands.

Genetics Home Reference : 25 Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

OMIM : 54
Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995). (100800)

Disease Ontology : 12 An osteochondrodysplasia that results_in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

Wikipedia : 72 Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in about 80% of cases... more...

GeneReviews: NBK1152

Related Diseases for Achondroplasia

Diseases related to Achondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 121, show less)
id Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type ii 28.7 FGF3 FGFR1 FGFR2 FGFR3
2 crouzon syndrome with acanthosis nigricans 28.3 COMP FGFR2 FGFR3 PTH1R
3 thanatophoric dysplasia, type i 27.7 FGF3 FGFR1 FGFR2 FGFR3 NPPC SHOX
4 hypochondroplasia 26.4 ACAN BMP8B COMP FGF3 FGFR1 FGFR2
5 achondroplasia and severe combined immunodeficiency 12.1
6 saddan 12.0
7 achondroplasia and swiss type agammaglobulinemia 11.8
8 dwarfism 11.3
9 pseudoachondroplasia 11.1
10 short-limb skeletal dysplasia with severe combined immunodeficiency 11.0
11 chondrodysplasia punctata, x-linked dominant 10.8
12 x-linked chondrodysplasia punctata 10.8
13 rhizomelic chondrodysplasia punctata, type 1 10.8
14 mesomelia 10.7
15 hydrocephalus, nonsyndromic, autosomal recessive 10.7
16 atelosteogenesis, type i 10.7
17 boomerang dysplasia 10.7
18 epiphyseal chondrodysplasia, miura type 10.4 FGFR3 NPPC
19 autism susceptibility, x-linked 2 10.4 FGFR3 SHOX
20 myopathy with extrapyramidal signs 10.3 ACAN FGFR3
21 ocular hypotension 10.3 FGFR2 FGFR3
22 apert syndrome 10.3 FGFR2 FGFR3
23 charcot-marie-tooth disease type 7 10.3 FGFR3 NPPC SHOX
24 polyglucosan body disease, adult form 10.3 FGFR3 PTH1R
25 esotropia 10.2 FGFR2 FGFR3
26 breast intracanalicular fibroadenoma 10.1 FGFR3 PTH1R SOX9
27 phkg2-related phosphorylase kinase deficiency 10.1 FGFR1 FGFR2
28 angelman syndrome due to imprinting defect in 15q11-q13 10.1 FGFR3 PTH1R SOX9
29 vulvovaginitis 10.1 FGFR3 PTH1R SOX9
30 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.0 FGFR1 FGFR2
31 sleep disorder 10.0
32 cervicitis 10.0
33 syringobulbia 10.0 FGFR1 FGFR3 SOX9
34 spinal stenosis 10.0
35 sleep apnea 10.0
36 cerebral hemorrhage 10.0 ACAN COMP
37 obstructive sleep apnea 10.0
38 acanthosis nigricans 10.0
39 smed strudwick type 9.9 ACAN COMP
40 hydrocephalus 9.9
41 skeletal dysplasias 9.9
42 skeletal dysplasia 9.9
43 vulvar sarcoma 9.9 ACAN COMP
44 plasmalogens synthesis deficiency isolated 9.9 FGFR1 FGFR2 FGFR3
45 atrioventricular septal defect 9.9 COMP FGFR3
46 trigonocephaly 1 9.9 FGFR1 FGFR2 FGFR3
47 hypogonadotropic hypogonadism 2 with or without anosmia 9.9 FGFR1 FGFR2 FGFR3
48 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 9.9 FGFR1 FGFR2 FGFR3
49 beare-stevenson cutis gyrata syndrome 9.9 FGFR1 FGFR2 FGFR3
50 bladder cancer, somatic 9.9 FGFR1 FGFR2 FGFR3
51 acromesomelic dysplasia 9.9 ACAN COMP
52 craniosynostosis 1 9.9 FGFR1 FGFR2 FGFR3
53 down syndrome 9.9
54 jackson-weiss syndrome 9.9 FGFR1 FGFR2 FGFR3
55 osteopoikilosis 9.8 FGFR1 FGFR2 FGFR3
56 crohn's disease 9.8 FGFR1 FGFR2 FGFR3
57 craniosynostosis 9.8
58 pulmonary hypertension 9.8
59 primary congenital glaucoma 9.8 FGF3 FGFR1 FGFR2
60 osteopetrosis 9.8
61 synostosis 9.8
62 bone structure disease 9.7 ACAN SOX9
63 osteonecrosis 9.7 ACAN COMP
64 weill-marchesani syndrome 9.7 FGFR1 FGFR2
65 crouzon syndrome 9.7
66 coloboma 9.7
67 retinitis 9.7
68 osteogenesis imperfecta 9.7
69 pelvic lipomatosis 9.7
70 osteoarthritis 9.7
71 megalencephaly 9.7
72 achondrogenesis 9.7
73 lipomatosis 9.7
74 pfeiffer syndrome 9.5
75 syringomyelia 9.5
76 chiari malformation 9.5
77 nail-patella syndrome 9.5
78 arachnoiditis 9.5
79 periodontal disease 9.5
80 keratoconus 9.5
81 fundus albipunctatus 9.5
82 leukemia 9.5
83 duane retraction syndrome 9.5
84 middle ear disease 9.5
85 neuroblastoma 9.5
86 marfan syndrome 9.5
87 multiple epiphyseal dysplasia 9.5
88 hemifacial spasm 9.5
89 obesity 9.5
90 neurofibromatosis, type 1 9.5
91 renal osteodystrophy 9.5
92 spondylitis 9.5
93 hypotonia 9.5
94 thrombocytopenia 9.5
95 biliary atresia 9.5
96 periodontitis 9.5
97 infantile hypotonia 9.5
98 gonadal dysgenesis 9.5
99 polyhydramnios 9.5
100 leri-weill dyschondrosteosis 9.5
101 papilledema 9.5
102 myeloid leukemia 9.5
103 scoliosis 9.5
104 ventricular septal defect 9.5
105 chorioretinitis 9.5
106 fragile x syndrome 9.5
107 spondylosis 9.5
108 muscular dystrophy 9.5
109 duchenne muscular dystrophy 9.5
110 pharyngitis 9.5
111 birth defects 9.5
112 mucositis 9.5
113 tetralogy of fallot 9.5
114 trigeminal neuralgia 9.5
115 respiratory failure 9.5
116 polydactyly 9.5
117 arachnoid cysts 9.5
118 osteochondrosis 9.4 ACAN COMP SOX9
119 skin fragility-woolly hair-palmoplantar keratoderma syndrome 9.1 COMP FGFR3 NPPC PTH1R SOX9
120 slc6a4-related altered drug metabolism 8.8 ACAN COMP FGFR2 FGFR3 SHOX
121 ischemic bone disease 8.2 COMP FGFR1 FGFR2 FGFR3 SHOX SOX9

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to Achondroplasia

Symptoms & Phenotypes for Achondroplasia

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
delayed motor development
hydrocephalus, occasional
hypotonia in infancy and early childhood
brain stem compression

Head And Neck- Face:
midface hypoplasia

Skeletal- Limbs:
rhizomelic shortening
short femoral neck
bowing of legs
metaphyseal flaring
limited elbow and hip extension

Head And Neck- Nose:
low nasal bridge

Respiratory- Airways:
upper airway obstruction

Skeletal- Skull:
jugular bulb dehiscence (in some patients)
foramen magnum stenosis

Skeletal- Pelvis:
dysplastic ilium
narrow sacroiliac groove
flat rooted acetabulae

Skeletal- Hands:
brachydactyly
trident hand

Head And Neck- Head:
frontal bossing
megalencephaly

Head And Neck- Ears:
conductive hearing loss
recurrent otitis media in infancy and childhood

Growth- Height:
short-limb dwarfism identifiable at birth
mean male adult height, 131 cm
mean female height, 124 cm

Skeletal:
generalized joint laxity

Skeletal- Spine:
lumbar kyphosis in infancy
exaggerated lumbar lordosis during childhood and adulthood
congenital spinal stenosis due to short pedicles, especially lumbar
progressive interpediculate narrowing in lumbar spine


Clinical features from OMIM:

100800

Human phenotypes related to Achondroplasia:

56 32 (showing 62, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001260
2 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
3 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 wormian bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0002645
6 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
7 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
8 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
9 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
10 elbow dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0003042
11 genu varum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002970
12 narrow chest 56 32 frequent (33%) Frequent (79-30%) HP:0000774
13 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
14 sudden cardiac death 56 32 occasional (7.5%) Occasional (29-5%) HP:0001645
15 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
16 midface retrusion 56 32 frequent (33%) Frequent (79-30%) HP:0011800
17 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
18 hyperlordosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003307
19 rhizomelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008905
20 obesity 56 32 frequent (33%) Frequent (79-30%) HP:0001513
21 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
22 dental malocclusion 56 32 frequent (33%) Frequent (79-30%) HP:0000689
23 acanthosis nigricans 56 32 occasional (7.5%) Occasional (29-5%) HP:0000956
24 hyperhidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000975
25 dental crowding 56 32 frequent (33%) Frequent (79-30%) HP:0000678
26 obstructive sleep apnea 56 32 frequent (33%) Frequent (79-30%) HP:0002870
27 chronic otitis media 56 32 hallmark (90%) Very frequent (99-80%) HP:0000389
28 spinal canal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003416
29 narrow sacroiliac notch 56 32 frequent (33%) Frequent (79-30%) HP:0008803
30 diaphyseal thickening 56 32 frequent (33%) Frequent (79-30%) HP:0005019
31 long thorax 56 32 frequent (33%) Frequent (79-30%) HP:0100818
32 abnormal form of the vertebral bodies 56 32 frequent (33%) Frequent (79-30%) HP:0003312
33 conductive hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000405
34 abnormality of the ribs 56 32 hallmark (90%) Very frequent (99-80%) HP:0000772
35 neonatal short-limb short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0008921
36 brachydactyly 32 HP:0001156
37 lumbar hyperlordosis 32 HP:0002938
38 apnea 56 Frequent (79-30%)
39 motor delay 32 HP:0001270
40 limited elbow extension 32 HP:0001377
41 death in infancy 56 Occasional (29-5%)
42 short femoral neck 32 HP:0100864
43 malar flattening 32 HP:0000272
44 recurrent otitis media 32 HP:0000403
45 megalencephaly 32 HP:0001355
46 upper airway obstruction 32 HP:0002781
47 generalized joint laxity 32 HP:0002761
48 lumbar kyphosis in infancy 32 HP:0008414
49 trident hand 32 HP:0004060
50 brain stem compression 32 HP:0002512
51 small foramen magnum 32 HP:0002677
52 limited hip extension 32 HP:0003093
53 bowing of the long bones 56 Frequent (79-30%)
54 neurological speech impairment 56 Occasional (29-5%)
55 abnormality of the metaphyses 56 Very frequent (99-80%)
56 abnormality of the ilium 56 Frequent (79-30%)
57 disproportionate short-limb short stature 56 Very frequent (99-80%)
58 abnormality of the elbow 56 Frequent (79-30%)
59 flared metaphysis 32 HP:0003015
60 infantile muscular hypotonia 32 HP:0008947
61 spinal stenosis with reduced interpedicular distance 32 HP:0005733
62 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

MGI Mouse Phenotypes related to Achondroplasia:

44 (showing 11, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 FGFR3 MAP2K1 NPPC PTH1R SOX9 COMP
2 craniofacial MP:0005382 10.04 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC PTH1R
3 limbs/digits/tail MP:0005371 9.97 COMP FGF3 FGFR1 FGFR2 FGFR3 NPPC
4 digestive/alimentary MP:0005381 9.95 FGFR1 FGFR2 FGFR3 MAP2K1 PTH1R SOX9
5 embryo MP:0005380 9.93 FGF3 FGFR1 FGFR2 MAP2K1 PTH1R SOX9
6 hearing/vestibular/ear MP:0005377 9.88 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 SOX9
7 nervous system MP:0003631 9.87 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1 NPPC
8 normal MP:0002873 9.8 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
9 reproductive system MP:0005389 9.7 MAP2K1 NPPC SOX9 FGF3 FGFR1 FGFR2
10 skeleton MP:0005390 9.61 MAP2K1 NPPC PTH1R SOX9 COMP FGF3
11 vision/eye MP:0005391 9.02 MAP2K1 SOX9 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Achondroplasia

Drugs for Achondroplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 2, show less)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Natriuretic Agents Phase 3,Phase 2
2 Natriuretic Peptide, C-Type Phase 3,Phase 2

Interventional clinical trials:

(showing 12, show less)

id Name Status NCT ID Phase Drugs
1 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03197766 Phase 3 BMN 111;Placebo
2 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Active, not recruiting NCT02055157 Phase 2 BMN 111
3 A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH) Enrolling by invitation NCT02724228 Phase 2 BMN 111
4 A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers Completed NCT01590446 Phase 1 BMN 111;Normal Saline
5 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
6 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
7 A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin Completed NCT01435629 somatropin
8 Special Survey for Long Term Application Completed NCT01516229 somatropin
9 Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic Patients Completed NCT01328418
10 Study of Skeletal Disorders and Short Stature Completed NCT00001754
11 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881
12 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Enrolling by invitation NCT01603095

Search NIH Clinical Center for Achondroplasia

Cochrane evidence based reviews: achondroplasia

Genetic Tests for Achondroplasia

Genetic tests related to Achondroplasia:

id Genetic test Affiliating Genes
1 Achondroplasia 29 24 FGFR3

Anatomical Context for Achondroplasia

MalaCards organs/tissues related to Achondroplasia:

39
Bone, Brain, Lung, Testes, Spinal Cord, Bone Marrow, Occipital Lobe

Publications for Achondroplasia

Articles related to Achondroplasia:

(showing 630, show less)
id Title Authors Year
1
Humeral lengthening in patients with achondroplasia and in patients with post-septic shortening: comparison of procedure efficiency and safety. ( 28889181 )
2017
2
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature. ( 28497003 )
2017
3
Clinical dosage of meclozine promotes longitudinal bone growth, bone volume, and trabecular bone quality in transgenic mice with achondroplasia. ( 28785080 )
2017
4
Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia. ( 28520086 )
2017
5
Sinus pericranii in achondroplasia: a case report and review of the literature. ( 28872565 )
2017
6
Achondroplasia with Polydactyly: A Case Report. ( 28511523 )
2017
7
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
8
A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data. ( 28374958 )
2017
9
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. ( 28230213 )
2017
10
Myxoedema in a patient with achondroplasia in rural area of Guatemala. ( 28280081 )
2017
11
Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. ( 28819680 )
2017
12
Coincidental Finding of Twin Dentigerous Cyst in an Achondroplasia Patient. ( 28893057 )
2017
13
Final adult height in long-term growth hormone-treated achondroplasia patients. ( 28501952 )
2017
14
Long-term follow-up of a patient with achondroplasia treated with an orthodontic approach. ( 28364903 )
2017
15
Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia. ( 27767902 )
2017
16
Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit. ( 28210519 )
2017
17
Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia. ( 28644737 )
2017
18
Bilateral simultaneous total hip replacement in Achondroplasia. ( 28878547 )
2017
19
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. ( 28911208 )
2017
20
Achondroplasia with multiple supplemental supernumerary teeth and multiple talon cusps: A rare case report. ( 28702065 )
2017
21
The prevalence of the complications and their associated factors in humeral lengthening for achondroplasia: retrospective study of 54 cases. ( 28107267 )
2017
22
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28672740 )
2017
23
Growth Modulation in Achondroplasia. ( 28719547 )
2017
24
Avascular Retinal Findings in a Child With Achondroplasia. ( 28297043 )
2017
25
Sleep disordered breathing in children with achondroplasia. ( 27830579 )
2017
26
Sleep-disordered breathing and its management in children with achondroplasia. ( 28239978 )
2017
27
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28693116 )
2017
28
Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family. ( 28679403 )
2017
29
Two-staged Bilateral, Femoral Alignment Osteotomy with Concomitant Total Knee Arthroplasty in an Achondroplasia Patient - A Case Report. ( 28819598 )
2017
30
Current Care and Investigational Therapies in Achondroplasia. ( 28224446 )
2017
31
Reverse shoulder arthroplasty in young patient with achondroplasia - Ten year follow up: Case report. ( 28827054 )
2017
32
Anesthesia for Pulmonary Endarterectomy and Extracorporeal Membrane Oxygenation in a Patient With Achondroplasia. ( 28502457 )
2017
33
Growth charts for Australian children with achondroplasia. ( 28599087 )
2017
34
Arthroscopic knee anatomy in young achondroplasia patients. ( 28828058 )
2017
35
Cervicomedullary junction compression in infant with achondroplasia. ( 26944588 )
2016
36
Alternative technique in atypical spinal decompression: the use of the ultrasonic scalpel in paediatric achondroplasia. ( 27288205 )
2016
37
Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible. ( 27260401 )
2016
38
Achondroplasia. ( 27387628 )
2016
39
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia. ( 26850935 )
2016
40
Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles. ( 27040652 )
2016
41
Identifying spinal cord compression in achondroplasia - the role of somatosensory evoked potentials and the need for screening. ( 27651125 )
2016
42
Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?". ( 26754314 )
2016
43
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset. ( 27370225 )
2016
44
C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia. ( 26684019 )
2016
45
Multilevel thoracic ossification of the ligamentum flavum in a Hispanic woman with achondroplasia. ( 27140867 )
2016
46
The natural history of thoracolumbar kyphosis in achondroplasia. ( 28005181 )
2016
47
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. ( 27506979 )
2016
48
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. ( 26814021 )
2016
49
The neuropsychological function of children with achondroplasia. ( 27605460 )
2016
50
Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis. ( 27355624 )
2016
51
Ventricular septal defect closure in a patient with achondroplasia. ( 27323297 )
2016
52
A novel non-invasive detection method for the FGFR3 gene mutation in maternal plasma for a fetal achondroplasia diagnosis based on signal amplification by hemin-MOFs/PtNPs. ( 27836589 )
2016
53
An ICF-CY-based approach to assessing self- and observer-reported functioning in young persons with achondroplasia - development of the pilot version of the Achondroplasia Personal Life Experience Scale (APLES). ( 27636099 )
2016
54
Cognitive phenotype and language skills in children with achondroplasia. ( 26899672 )
2016
55
Achondroplasia: Development, Pathogenesis, and Therapy. ( 27987249 )
2016
56
Favorable Growth Hormone Treatment Response in a Young Boy with Achondroplasia. ( 27147792 )
2016
57
Prevalence of Scoliosis and Thoracolumbar Kyphosis in Patients With Achondroplasia. ( 27927547 )
2016
58
Walking Out of the Curve: Thoracolumbar Kyphosis in Achondroplasia. ( 27636912 )
2016
59
Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis. ( 27633930 )
2016
60
Retracted: Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome. ( 27239358 )
2016
61
Limb lengthening in achondroplasia. ( 27512222 )
2016
62
A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia. ( 26754866 )
2016
63
Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia. ( 27919255 )
2016
64
Functional characteristics of mesenchymal stem cells derived from the adipose tissue of a patient with achondroplasia. ( 27059327 )
2016
65
Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia. ( 27276636 )
2016
66
Discoid Meniscus Associated With Achondroplasia. ( 27135452 )
2016
67
Achondroplasia: Really rhizomelic? ( 27257098 )
2016
68
Letter to the editor: Response to two recent articles regarding achondroplasia. ( 26753848 )
2016
69
Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. ( 26136890 )
2015
70
Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia. ( 26770560 )
2015
71
Achondroplasia and limb lengthening: Results in a UK cohort and review of the literature. ( 25829758 )
2015
72
The Tibial Slope in Patients With Achondroplasia: Its Characterization and Possible Role in Genu Recurvatum Development. ( 26114241 )
2015
73
Surgical treatment for cervicomedullary compression among infants with achondroplasia. ( 25686888 )
2015
74
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? ( 25691418 )
2015
75
FGFR3/Fibroblast Growth Factor Receptor 3 Inhibits Autophagy through Decreasing the ATG12-ATG5 Conjugate, Leading to the Delay of Cartilage Development in Achondroplasia. ( 26491898 )
2015
76
Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome. ( 25789188 )
2015
77
Advances in treatment of achondroplasia and osteoarthritis. ( 26443596 )
2015
78
Bilateral humeral lengthening in achondroplasia with unilateral external fixators: is it safe and does it improve daily life? ( 26530664 )
2015
79
Achondroplasia and Macular Coloboma. ( 26692730 )
2015
80
Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings. ( 26041006 )
2015
81
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. ( 25728633 )
2015
82
Achondroplasia and multiple-suture craniosynostosis. ( 25502720 )
2015
83
Widening of the femoral diaphysis-metaphysis angle at 20-24 weeks: a marker for the detection of achondroplasia prior to the onset of skeletal shortening. ( 26450406 )
2015
84
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. ( 26126848 )
2015
85
Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? ( 26394798 )
2015
86
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. ( 26394886 )
2015
87
Meclozine promotes longitudinal skeletal growth in transgenic mice with achondroplasia carrying a gain-of-function mutation in the FGFR3 gene. ( 25456072 )
2015
88
Limb Lengthening in Patients with Achondroplasia. ( 26446651 )
2015
89
Low Prevalence of Anterior and Posterior Cruciate Ligament Injuries in Patients With Achondroplasia. ( 26469688 )
2015
90
Low bone mineral density in achondroplasia and hypochondroplasia. ( 26716907 )
2015
91
Achondroplasia: Current Options and Future Perspective. ( 26182483 )
2015
92
Diffusion tensor imaging of the brainstem in children with achondroplasia. ( 24825324 )
2014
93
Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses. ( 25385298 )
2014
94
Achondroplasia and brain stem dysfunction. ( 25040780 )
2014
95
Congenital lumbar spinal stenosis with ossification of the ligamentum flavum in achondroplasia: a case report. ( 24597928 )
2014
96
Low bone density in achondroplasia. ( 24664201 )
2014
97
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. ( 24971605 )
2014
98
Widening of the femoral proximal diaphysis--metaphysis angle in fetuses with achondroplasia. ( 24623391 )
2014
99
Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction. ( 25405196 )
2014
100
Optimal management of complications associated with achondroplasia. ( 25053890 )
2014
101
Acute paraparesis as consequence of lumbar bending in achondroplasia. ( 23842926 )
2014
102
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2014
103
FGFR3 mutation causes abnormal membranous ossification in achondroplasia. ( 24419316 )
2014
104
Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: a nationwide survey in Japan. ( 25453127 )
2014
105
Recurrent acute life-threatening events in a child with achondroplasia. ( 25368135 )
2014
106
Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta. ( 25649344 )
2014
107
Achondroplasia: anaesthetic challenges for caesarean section. ( 24768304 )
2014
108
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. ( 24352917 )
2014
109
Mortality in babies with achondroplasia: revisited. ( 24677650 )
2014
110
Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. ( 25249421 )
2014
111
Airway malacia in children with achondroplasia. ( 24311312 )
2014
112
Neurologic manifestations of achondroplasia. ( 24365319 )
2014
113
Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. ( 25432442 )
2014
114
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. ( 25183602 )
2014
115
Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia. ( 24616001 )
2014
116
Respiratory difficulties and breathing disorders in achondroplasia. ( 23523391 )
2013
117
Anaesthesia and orphan disease: a 26-year-old patient with achondroplasia. ( 24161935 )
2013
118
Height correlations between parents and offspring in achondroplasia population. ( 23322679 )
2013
119
Increased sacral uptake on a bone scan with SPECT/CT in a patient with achondroplasia: normal or abnormal? ( 23868929 )
2013
120
Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association. ( 23949953 )
2013
121
Ultrasound-guided combined spinal-epidural anaesthesia for elective caesarean section in a patient with achondroplasia. ( 23473550 )
2013
122
Bilateral ossiculoplasty in 1 case of achondroplasia. ( 24653923 )
2013
123
Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice. ( 24048522 )
2013
124
The effect of height, weight and head circumference on gross motor development in achondroplasia. ( 23336715 )
2013
125
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. ( 23740942 )
2013
126
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 23459260 )
2013
127
A rare case of percutaneous coronary intervention in achondroplasia. ( 23735369 )
2013
128
Intraoperative computed tomography for cervicomedullary decompression of foramen magnum stenosis in achondroplasia: two case reports. ( 24140778 )
2013
129
How reliable are standard radiographic measures of the foot and ankle in children with achondroplasia? ( 23609814 )
2013
130
Meclozine Facilitates Proliferation and Differentiation of Chondrocytes by Attenuating Abnormally Activated FGFR3 Signaling in Achondroplasia. ( 24324705 )
2013
131
Achondroplasia with oligodontia: Report of a rare case. ( 24574672 )
2013
132
FGFR3 targeting strategies for achondroplasia. ( 22559284 )
2012
133
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia. ( 22634226 )
2012
134
Clinical management of achondroplasia. ( 21460402 )
2012
135
De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report. ( 22935513 )
2012
136
Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. ( 22339077 )
2012
137
Achondroplasia associated with bilateral keratoconus. ( 23259098 )
2012
138
Comparison between upper and lower limb lengthening in patients with achondroplasia: a retrospective study. ( 22219260 )
2012
139
Development in children with achondroplasia: a prospective clinical cohort study. ( 22409389 )
2012
140
Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. ( 22711495 )
2012
141
Endoscopic third ventriculostomy in hydrocephalus associated with achondroplasia. ( 22208325 )
2012
142
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. ( 23200862 )
2012
143
Growth disturbance after lengthening of the lower limb and quantitative assessment of physeal closure in skeletally immature patients with achondroplasia. ( 22434475 )
2012
144
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. ( 22888019 )
2012
145
Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C. ( 22106050 )
2012
146
Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation. ( 22529939 )
2012
147
Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. ( 22112170 )
2012
148
Helping parents of children with monogenetic disorders understand developmental trajectories: lessons from achondroplasia. ( 22409722 )
2012
149
Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years. ( 22112021 )
2012
150
The prevalence of thoracolumbar kyphosis in achondroplasia: a systematic review. ( 22442656 )
2012
151
Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association. ( 22747519 )
2012
152
Physeal growth arrest after tibial lengthening in achondroplasia: 23 children followed to skeletal maturity. ( 22489887 )
2012
153
Is bilateral lower limb lengthening appropriate for achondroplasia?: midterm analysis of the complications and quality of life. ( 21785895 )
2012
154
Surgical decompression of thoracic spinal stenosis in achondroplasia: indication and outcome. ( 22724572 )
2012
155
Achondroplasia and periodontal disease. ( 22628982 )
2012
156
Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance. ( 22638916 )
2012
157
Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET. ( 23056398 )
2012
158
Sagittal spinopelvic parameters in children with achondroplasia: identification of 2 distinct groups. ( 22540171 )
2012
159
Laminectomy in patients with achondroplasia: the impact of time to surgery on long-term function. ( 20739914 )
2011
160
Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report. ( 20839967 )
2011
161
Safety of spinal anesthesia in a patient with achondroplasia for cesarean section. ( 21375478 )
2011
162
Analysis of sagittal spinopelvic parameters in achondroplasia. ( 21358483 )
2011
163
Personalized medicine and the importance of measuring functioning and participation over time: lessons from achondroplasia. ( 21838817 )
2011
164
The role of arthrography in selecting an osteotomy for the correction of genu varum in pediatric patients with achondroplasia. ( 20948449 )
2011
165
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. ( 21225355 )
2011
166
Functional performance in young Australian children with achondroplasia. ( 21838822 )
2011
167
Achondroplasia with synostosis of multiple sutures. ( 21739570 )
2011
168
New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. ( 21105021 )
2011
169
Magnetic resonance imaging study determining cord level and occupancy at thoracolumbar junction in achondroplasia - A prospective study. ( 21221226 )
2011
170
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). ( 21873755 )
2011
171
Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma. ( 20963478 )
2011
172
Achondroplasia in female twins: surgical indications. ( 21088624 )
2011
173
Growth references for height, weight, and head circumference for Argentine children with achondroplasia. ( 20938683 )
2011
174
FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. ( 21324899 )
2011
175
Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia. ( 20673820 )
2010
176
[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. ( 20890030 )
2010
177
Physical basis behind achondroplasia, the most common form of human dwarfism. ( 20624921 )
2010
178
Anaesthetic challenges associated with achondroplasia: a case report. ( 21243927 )
2010
179
Intraoperative airway obstruction related to tracheostomy tube malposition in a patient with achondroplasia and Jeune's syndrome. ( 20803866 )
2010
180
A case of chorioretinal coloboma in a patient with achondroplasia. ( 21052511 )
2010
181
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. ( 20034074 )
2010
182
Achondroplasia: Craniofacial manifestations and considerations in dental management. ( 24151409 )
2010
183
A new association or coincidence: achondroplasia and unilateral renal agenesis. ( 21290977 )
2010
184
Surgical decompression for lumbar stenosis in pediatric achondroplasia. ( 20574261 )
2010
185
Developmental milestones in infants and young Australasian children with achondroplasia. ( 20081435 )
2010
186
Callus features of regenerate fracture cases in femoral lengthening in achondroplasia. ( 19572129 )
2010
187
Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. ( 20357663 )
2010
188
Analysis of callus pattern of tibia lengthening in achondroplasia and a novel method of regeneration assessment using pixel values. ( 19418051 )
2010
189
Usefulness of phase contrast cine mode magnetic resonance imaging for surgical decision making in patients with hydrocephalus combined with achondroplasia. Case report. ( 21206191 )
2010
190
Surgical management of pelvic organ prolapse in a woman with achondroplasia. ( 20664444 )
2010
191
Coronary artery surgery in a man with achondroplasia: a case report. ( 21034450 )
2010
192
Achondroplasia: pathogenesis and implications for future treatment. ( 20601886 )
2010
193
Bone: FGFR3 mutation delays bone age in achondroplasia. ( 21038504 )
2010
194
Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. ( 20809726 )
2010
195
Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association. ( 20222028 )
2010
196
Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis. ( 19330302 )
2009
197
Achondroplasia: manifestations and treatment. ( 19307672 )
2009
198
Editorial. Achondroplasia. ( 19795958 )
2009
199
In brief: Achondroplasia. ( 19255125 )
2009
200
Neurosurgical implications of achondroplasia. ( 19795959 )
2009
201
Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. ( 19608200 )
2009
202
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. ( 19622626 )
2009
203
Lumbar fusion in achondroplasia: does fusion to the sacrum affect function? ( 19568020 )
2009
204
Deceleration in maturation of bone during adolescent age in achondroplasia--a retrospective study using RUS scoring system. ( 18629458 )
2009
205
[Updated treatment of achondroplasia]. ( 19252254 )
2009
206
Factors related to progression of thoracolumbar kyphosis in children with achondroplasia: a retrospective cohort study of forty-eight children treated in a comprehensive orthopaedic center. ( 19770611 )
2009
207
Molecular studies of achondroplasia. ( 19838370 )
2009
208
Prenatal diagnosis of achondroplasia: new specific signs. ( 19399756 )
2009
209
Femoral lengthening in achondroplasia: magnitude of lengthening in relation to patterns of callus, stiffness of adjacent joints and fracture. ( 19949126 )
2009
210
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. ( 18485666 )
2008
211
Ultrasound hip evaluation in achondroplasia. ( 18520278 )
2008
212
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. ( 17895900 )
2008
213
An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. ( 17683901 )
2008
214
Foramen magnum stenosis from overgrowth of the opisthion in a child with achondroplasia. ( 18671620 )
2008
215
Successful polar body-based preimplantation genetic diagnosis for achondroplasia. ( 18284886 )
2008
216
Subcortical somatosensory evoked potentials after median nerve and posterior tibial nerve stimulation in high cervical cord compression of achondroplasia. ( 18597963 )
2008
217
Rates of perioperative complications associated with laminectomies in patients with achondroplasia. ( 18245588 )
2008
218
Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report. ( 18694487 )
2008
219
Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. ( 18689372 )
2008
220
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. ( 18698630 )
2008
221
Achondroplasia. ( 18590403 )
2008
222
Patellar dislocation in achondroplasia. ( 18043378 )
2008
223
Achondroplasia: from genotype to phenotype. ( 17950653 )
2008
224
Ischemic brain damage induced after adenotonsillectomy in achondroplasia. ( 18439482 )
2008
225
Lumbar nerve root occupancy in the foramen in achondroplasia: a morphometric analysis. ( 18259829 )
2008
226
Achondroplasia. ( 18328977 )
2008
227
[Prenatal diagnosis of achondroplasia]. ( 18683143 )
2008
228
Achondroplasia associated with metabolic syndrome: patient report. ( 19012636 )
2008
229
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. ( 18076102 )
2008
230
Achondroplasia associated with gonadal dysgenesis. ( 18534146 )
2008
231
Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies. ( 17706214 )
2008
232
Down syndrome, achondroplasia and tetralogy of Fallot. ( 18196933 )
2008
233
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. ( 18266238 )
2008
234
Pulmonary hypertension in an infant with achondroplasia. ( 18552519 )
2008
235
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. ( 18199430 )
2008
236
Os odontoideum in achondroplasia: a case report. ( 18510168 )
2008
237
Locking of the metacarpophalangeal joint as a result of the shape of the metacarpal head in achondroplasia. ( 17950229 )
2007
238
Noninvasive ventilation in a child affected by achondroplasia respiratory difficulty syndrome. ( 17184438 )
2007
239
Thoracic and lumbar pedicle morphometry in achondroplasia. ( 16957649 )
2007
240
PTH has the potential to rescue disturbed bone growth in achondroplasia. ( 17466614 )
2007
241
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. ( 18154022 )
2007
242
Fundus albipunctatus in a patient with achondroplasia. ( 17913175 )
2007
243
Surgical treatment for sleep apnea: changes in craniofacial and pharyngeal airway morphology in a child with achondroplasia. ( 17634732 )
2007
244
Unsuccessful lumbar puncture in a paediatric patient with achondroplasia. ( 17933169 )
2007
245
Laminectomies and achondroplasia: does body mass index influence surgical outcomes? ( 17431909 )
2007
246
Achondroplasia and enchondromatosis: report of three boys. ( 16763840 )
2007
247
Spinal stenosis surgery in pediatric patients with achondroplasia. ( 17566204 )
2007
248
Acute neurological deficit after minor trauma in an infant with achondroplasia and cervicomedullary compression. Case report and review of the literature. ( 18459888 )
2007
249
Early presentation of spinal stenosis in achondroplasia. ( 17314632 )
2007
250
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. ( 17154237 )
2007
251
Cervical high-intensity intramedullary lesions without spinal cord compression in achondroplasia. ( 17436917 )
2007
252
Distraction osteogenesis of the lower extremity in patients with achondroplasia/hypochondroplasia treated with transplantation of culture-expanded bone marrow cells and platelet-rich plasma. ( 17717461 )
2007
253
Advances in understanding etiology of achondroplasia and review of management. ( 17224659 )
2007
254
Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia. ( 17624273 )
2007
255
Cardiopulmonary exercise capacity, muscle strength, and physical activity in children and adolescents with achondroplasia. ( 17188608 )
2007
256
Otolaryngologic manifestations of achondroplasia. ( 17372080 )
2007
257
Weight for age charts for children with achondroplasia. ( 17764078 )
2007
258
Achondroplasia. ( 17630040 )
2007
259
Development of genu varum in achondroplasia: relation to fibular overgrowth. ( 17259417 )
2007
260
Mortality in achondroplasia study: a 42-year follow-up. ( 17879967 )
2007
261
Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia. ( 16434832 )
2006
262
Recent milestones in achondroplasia research. ( 16353253 )
2006
263
Abnormal oral mucosal light reflectance in achondroplasia. ( 16731394 )
2006
264
Magnetic resonance venography of achondroplasia: correlation of venous narrowing at the jugular foramen with hydrocephalus. ( 16632156 )
2006
265
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. ( 16411219 )
2006
266
Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association. ( 16475234 )
2006
267
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. ( 16721528 )
2006
268
Posterior osteotomy and instrumentation for thoracolumbar kyphosis in patients with achondroplasia. ( 16924200 )
2006
269
Bifocal tibial corrective osteotomy with lengthening in achondroplasia: an analysis of results and complications. ( 17065948 )
2006
270
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. ( 16912704 )
2006
271
Aspects of achondroplasia in the skulls of dwarf transgenic mice: a cephalometric study. ( 16463380 )
2006
272
Orthodontic management of achondroplasia. ( 16909171 )
2006
273
The strange association between achondroplasia and neurofibromatosis type 1: molecular analysis of a new patient and review of the literature. ( 16970043 )
2006
274
Surgical treatment of achondroplasia with thoracolumbar kyphosis and spinal stenosis--a case report. ( 16819698 )
2006
275
Neutron diffraction studies of fluid bilayers with transmembrane proteins: structural consequences of the achondroplasia mutation. ( 16950849 )
2006
276
Morphometric determinants of the sagittal dimensions of the cervical spinal canal in achondroplasia: an analysis of the reliability of the Torg ratio. ( 17021417 )
2006
277
Analysis of lower extremity alignment in achondroplasia: interobserver reliability and intraobserver reproducibility. ( 16439907 )
2006
278
Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology. ( 16406083 )
2006
279
Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies. ( 16874841 )
2006
280
A case of achondroplasia with severe pulmonary hypertension due to obstructive sleep apnea. ( 16670917 )
2006
281
Dynamic lower extremity alignment in children with achondroplasia. ( 16791073 )
2006
282
The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain. ( 16634636 )
2006
283
[Fibroblast growth factor receptor and achondroplasia]. ( 17079857 )
2006
284
Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. ( 16572633 )
2006
285
MRI study of the lumbar spine in achondroplasia. A morphometric analysis for the evaluation of stenosis of the canal. ( 16943471 )
2006
286
Rotational profile of the lower extremity in achondroplasia: computed tomographic examination of 25 patients. ( 16944139 )
2006
287
The sagging rope sign in achondroplasia--different from Perthes' disease. ( 16775711 )
2006
288
Genu varum in achondroplasia. ( 16670552 )
2006
289
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. ( 16355813 )
2005
290
A simple and rapid quantitative method of detection of the common achondroplasia mutation: analysis in mismatch repair deficient cells. ( 16161636 )
2005
291
Health supervision for children with achondroplasia. ( 16140722 )
2005
292
Arachnoid cyst resulting in tonsillar herniation and syringomyelia in a patient with achondroplasia. Case report. ( 16398464 )
2005
293
Orthodontic management of achondroplasia in South Africa. ( 16201001 )
2005
294
Sagging rope sign in achondroplasia is different from Perthes disease. ( 16294124 )
2005
295
First trimester increased nuchal translucency associated with fetal achondroplasia. ( 15838748 )
2005
296
Correction of anterior open bite in a case of achondroplasia. ( 16761710 )
2005
297
Survey of the present status of sleep-disordered breathing in children with achondroplasia Part I. A questionnaire survey. ( 15763281 )
2005
298
Multiplier method for prediction of adult height in patients with achondroplasia. ( 15958911 )
2005
299
Disappearance of hemifacial spasm after ventriculoperitoneal shunting in a patient with achondroplasia--case report. ( 15722610 )
2005
300
Surgical correction of bowlegs in achondroplasia. ( 15931026 )
2005
301
Failed regional anesthesia with reduced spinal bupivacaine dosage in a parturient with achondroplasia presenting for urgent cesarean section. ( 15795154 )
2005
302
The role of endoscopic third ventriculostomy in the treatment of triventricular hydrocephalus seen in children with achondroplasia. ( 16238080 )
2005
303
An unusual presentation of achondroplasia. Case report. ( 16370285 )
2005
304
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. ( 16299871 )
2005
305
Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. ( 15487008 )
2004
306
Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report. ( 15565648 )
2004
307
Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. ( 15371713 )
2004
308
Do parents and grandparents of patients with achondroplasia have a higher cancer risk? ( 15372518 )
2004
309
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. ( 15517832 )
2004
310
PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations. ( 15254256 )
2004
311
Management of disabilities associated with achondroplasia. ( 14767713 )
2004
312
Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. ( 14699054 )
2004
313
Prenatal diagnosis of achondroplasia. ( 15284703 )
2004
314
Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. ( 14871928 )
2004
315
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. ( 14702637 )
2004
316
Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. ( 15345118 )
2004
317
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis. ( 15221641 )
2004
318
Spinal fusion for kyphosis in achondroplasia. ( 15308905 )
2004
319
Oral findings in a typical case of achondroplasia. ( 12870378 )
2003
320
Achondroplasia and enchondromatosis in a female child. ( 12774176 )
2003
321
Detection of achondroplasia G380R mutation from PCR amplicons by using inosine modified carbon electrodes based on electrochemical DNA chip technology. ( 14500035 )
2003
322
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. ( 12816345 )
2003
323
Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. ( 14558035 )
2003
324
The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. ( 12733711 )
2003
325
Molecular basis for the treatment of achondroplasia. ( 14671399 )
2003
326
Living with achondroplasia: attitudes toward population screening and correlation with quality of life. ( 14663838 )
2003
327
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. ( 12476453 )
2003
328
Living with achondroplasia in an average-sized world: an assessment of quality of life. ( 12884421 )
2003
329
Thoracolumbar spinal deformity in achondroplasia. ( 15766221 )
2003
330
Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties. ( 12615816 )
2003
331
Anaesthetic management of a patient with achondroplasia. ( 12846715 )
2003
332
[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. ( 15022403 )
2003
333
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. ( 12921294 )
2003
334
Correction of lumbosacral hyperlordosis in achondroplasia. ( 12966299 )
2003
335
Observations on the cause of bowlegs in achondroplasia. ( 11744865 )
2002
336
Surgical treatment of lumbar stenosis in achondroplasia. ( 11990837 )
2002
337
Achondroplasia. ( 12147902 )
2002
338
Achondroplasia: 3D-CT evaluation of the cervical spine. ( 15457746 )
2002
339
Issues surrounding prenatal genetic testing for achondroplasia. ( 12378581 )
2002
340
Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. ( 12506285 )
2002
341
Polyhydramnios: a predictor of severe growth impairment in achondroplasia. ( 12183727 )
2002
342
Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. ( 12424440 )
2002
343
Deformities of the elbow in achondroplasia. ( 12188484 )
2002
344
[Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients]. ( 12048679 )
2002
345
Another condition--not achondroplasia--masquerading in a recent textbook. ( 12269255 )
2002
346
The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. ( 12397172 )
2002
347
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. ( 11754059 )
2001
348
Clinical and molecular characteristics of Thai patients with achondroplasia. ( 11556601 )
2001
349
Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. ( 11489233 )
2001
350
[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor]. ( 11414167 )
2001
351
Facial palsy and achondroplasia: a rare association. ( 11506333 )
2001
352
Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. ( 11343336 )
2001
353
Severe pulmonary hypertension in an infant with achondroplasia. ( 11589938 )
2001
354
Deformation across the zone of callotasis during loading. radiostereometric analysis in a patient with achondroplasia. ( 11347700 )
2001
355
A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. ( 11181569 )
2001
356
Skeletal development of achondroplasia: analysis of genotyped patients. ( 11472579 )
2001
357
Trigeminal neuralgia associated with achondroplasia. Case report with literature review. ( 11731870 )
2001
358
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. ( 11426459 )
2001
359
Bilateral humeral lengthening in achondroplasia. ( 11603677 )
2001
360
Isolated subaxial cervical spine stenosis in achondroplasia. ( 11024249 )
2000
361
[Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. ( 10932008 )
2000
362
Germline and somatic mosaicism in achondroplasia. ( 11186939 )
2000
363
Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia. ( 10759489 )
2000
364
The neurological complications of achondroplasia. ( 10761826 )
2000
365
Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. ( 10890199 )
2000
366
An uncommon G375C substitution in a newborn with achondroplasia. ( 10893668 )
2000
367
Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization. ( 10979354 )
2000
368
Perioperative intracranial hemorrhage in achondroplasia: a case report. ( 10905569 )
2000
369
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. ( 11186940 )
2000
370
The use of gated cine phase contrast and MR venography in achondroplasia. ( 11048631 )
2000
371
Achondroplasia and nail-patella syndrome: the compound phenotype. ( 10978372 )
2000
372
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. ( 11059551 )
2000
373
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. ( 10696568 )
2000
374
Recurrence risk for sibs of children with "sporadic" achondroplasia. ( 10678665 )
2000
375
Expression of FGFR3 with the G380R achondroplasia mutation inhibits proliferation and maturation of CFK2 chondrocytic cells. ( 10646125 )
2000
376
Effects of lower-leg lengthening on bone mineral density and soft tissue composition of legs in a patient with achondroplasia. ( 11052467 )
2000
377
Growth hormone therapy in achondroplasia. ( 10971105 )
2000
378
Reoperation for spinal restenosis in achondroplasia. ( 10780694 )
2000
379
[Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia]. ( 11057021 )
2000
380
FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation. ( 10881785 )
2000
381
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. ( 10200283 )
1999
382
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. ( 10360393 )
1999
383
Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. ( 10206234 )
1999
384
Jugular bulb dehiscence in achondroplasia. ( 10375043 )
1999
385
Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. ( 10445347 )
1999
386
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. ( 10405653 )
1999
387
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. ( 10377013 )
1999
388
Achondroplasia associated with pelvic lipomatosis. ( 10459943 )
1999
389
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. ( 10587515 )
1999
390
[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia]. ( 9949234 )
1999
391
Whole body bone mass and body composition in a girl with achondroplasia, at ages 9 through 12. ( 10499979 )
1999
392
Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. ( 9949360 )
1999
393
Treatment of achondroplasia with growth hormone: six years of experience. ( 10509364 )
1999
394
Achondroplasia-hypochondroplasia complex in a newborn infant. ( 10360392 )
1999
395
Achondroplasia associated with pelvic lipomatosis. ( 10459944 )
1999
396
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. ( 10482885 )
1999
397
Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. ( 10592476 )
1999
398
[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population]. ( 10207844 )
1999
399
Molecular defects in achondroplasia and the effects of growth hormone treatment. ( 10102070 )
1999
400
Sequence, structure and chromosomal localization of Crtm gene encoding mouse cartilage matrix protein and its exclusion as a candidate for murine achondroplasia. ( 9569124 )
1998
401
Achondroplasia associated with Down syndrome. ( 9605293 )
1998
402
Achondroplasia: a case of neglect? ( 9872238 )
1998
403
Orthodontic treatment of Class II division 1 malocclusion in a patient with achondroplasia. ( 9709839 )
1998
404
Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. ( 9797588 )
1998
405
Genotype phenotype correlation in achondroplasia and hypochondroplasia. ( 9853502 )
1998
406
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. ( 9718331 )
1998
407
The diameter of callus in leg lengthening: 28 tibial lengthenings in 14 patients with achondroplasia. ( 9703409 )
1998
408
[Achondroplasia: molecular study of 28 patients]. ( 9611730 )
1998
409
Sleep-disordered breathing in children with achondroplasia. ( 9580768 )
1998
410
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. ( 9869286 )
1998
411
Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. ( 9780920 )
1998
412
Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype. ( 9539301 )
1998
413
Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia. ( 9745773 )
1998
414
FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. ( 9554479 )
1998
415
Medical complications of achondroplasia: a multicentre patient review. ( 9733026 )
1998
416
Lung volume histograms after computed tomography of the chest with three-dimensional imaging as a method to substantiate successful surgical expansion of the rib cage in achondroplasia. ( 9607482 )
1998
417
Functional health status of adults with achondroplasia. ( 9637420 )
1998
418
Bone marrow transplantation in a patient with chronic myeloid leukemia and achondroplasia. ( 9499671 )
1997
419
Biophysical bases for delayed and aberrant motor development in young children with achondroplasia. ( 9213228 )
1997
420
Achondroplasia: recent advances in diagnosis and treatment. ( 9316303 )
1997
421
1997 Albert Lasker Award for Special Achievement in Medical Science. Observations over 50 years concerning intestinal polyposis, Marfan syndrome and achondroplasia. ( 9334707 )
1997
422
Early detection of neurological manifestations in achondroplasia. ( 9202856 )
1997
423
An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia. ( 9401015 )
1997
424
The Bmp8 gene is expressed in developing skeletal tissue and maps near the Achondroplasia locus on mouse chromosome 4. ( 9070944 )
1997
425
Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells. ( 9199352 )
1997
426
Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts. ( 9158142 )
1997
427
Effects and serum levels of thrombopoietin in a case of chronic thrombocytopenia with achondroplasia. ( 9220665 )
1997
428
Urine leakage from the umbilicus in a child with achondroplasia and tetraplegia (due to cervical stenosis): a safety vent for the obstructed neuropathic bladder. ( 9203037 )
1997
429
Hydrocephalus and chronically increased intracranial pressure in achondroplasia. ( 9272288 )
1997
430
Growth and growth hormone therapy in children with achondroplasia: a two-year experience. ( 9295079 )
1997
431
Prevention of fixed, angular kyphosis in achondroplasia. ( 9591973 )
1997
432
Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. ( 9124710 )
1997
433
Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 9372781 )
1997
434
Atypical achondroplasia. ( 9128943 )
1997
435
[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)]. ( 8949407 )
1996
436
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. ( 9001669 )
1996
437
Achondroplasia. ( 8920380 )
1996
438
Case report: renal osteodystrophy in association with spinal stenosis in achondroplasia. ( 8824015 )
1996
439
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia. ( 8878289 )
1996
440
Human growth hormone treatment in prepubertal children with achondroplasia. ( 8834055 )
1996
441
[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia]. ( 8949408 )
1996
442
Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. ( 8923856 )
1996
443
Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia. ( 8844216 )
1996
444
Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. ( 8640234 )
1996
445
Errors in the prenatal diagnosis of children with achondroplasia. ( 8809893 )
1996
446
Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems. ( 8779333 )
1996
447
Limb lengthening in children with achondroplasia. Differences based on gender. ( 8913161 )
1996
448
Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets. ( 9115628 )
1996
449
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia. ( 8742128 )
1996
450
Standard weight for height curves in achondroplasia. ( 8882783 )
1996
451
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. ( 9055906 )
1996
452
Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene. ( 8682509 )
1996
453
Posterior fossa decompression without duraplasty in infants and young children for treatment of Chiari malformation and achondroplasia. ( 9309784 )
1996
454
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. ( 8599935 )
1996
455
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. ( 8723101 )
1996
456
Analysis of cellular proteins in achondroplasia by two-dimensional electrophoresis. ( 8871281 )
1996
457
Sleep and upper airway obstruction in children with achondroplasia. ( 8917243 )
1996
458
Overnight growth hormone secretion in achondroplasia: deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea. ( 8929879 )
1996
459
Surgical management of cervicomedullary compression in achondroplasia. ( 9118140 )
1996
460
Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester. ( 7617874 )
1995
461
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. ( 7758520 )
1995
462
Health supervision for children with achondroplasia. American Academy of Pediatrics Committee on Genetics. ( 7862491 )
1995
463
Achondroplasia is defined by recurrent G380R mutations of FGFR3. ( 7847369 )
1995
464
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. ( 7702086 )
1995
465
Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. ( 7717392 )
1995
466
Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. ( 8588588 )
1995
467
Brain morphometric analysis in achondroplasia. ( 7898709 )
1995
468
Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. ( 7586642 )
1995
469
Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375) ( 8599370 )
1995
470
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. ( 8585566 )
1995
471
Craniocervical stenosis and apnea spells in a 2-month-old baby with achondroplasia. ( 8576562 )
1995
472
A case of achondroplasia with downward displacement of the brain stem. ( 7666963 )
1995
473
Surgical intervention in achondroplasia. ( 7762574 )
1995
474
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. ( 7649548 )
1995
475
Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. ( 7887429 )
1995
476
Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia. ( 8851771 )
1995
477
Information update on Achondroplasia. ( 7700776 )
1995
478
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. ( 8081365 )
1994
479
Foramen magnum stenosis and bilateral benign subdural collections in achondroplasia: case report. ( 7562034 )
1994
480
Achondroplasia: pre- and postsurgical considerations for midface advancement. ( 8130246 )
1994
481
Achondroplasia with XXY karyotype. ( 8062443 )
1994
482
Therapy-resistant papilledema in achondroplasia. ( 8032476 )
1994
483
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. ( 8078586 )
1994
484
First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. ( 7968151 )
1994
485
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. ( 7913883 )
1994
486
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. ( 8012398 )
1994
487
Cervicomedullary compression in achondroplasia. ( 8207526 )
1994
488
The gene for achondroplasia maps to the telomeric region of chromosome 4p. ( 8012397 )
1994
489
Sonographic prenatal diagnosis of heterozygous achondroplasia: a case report. ( 7745378 )
1994
490
Prenatal ultrasonographic demonstration of the trident hand in heterozygous achondroplasia. ( 7636958 )
1994
491
Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia. ( 7966194 )
1994
492
Cognitive skills in achondroplasia. ( 8267016 )
1993
493
Hearing loss and temporal bone structure in achondroplasia. ( 8456822 )
1993
494
Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation. ( 8341638 )
1993
495
Achondroplasia ( 20301331 )
1993
496
Growth hormone (GH) treatment in achondroplasia. ( 8374688 )
1993
497
Achondroplasia and spinal cord lesion. Three case reports. ( 8337000 )
1993
498
Growth hormone therapy in achondroplasia. ( 8317186 )
1993
499
Breathing abnormalities in sleep in achondroplasia. ( 8215519 )
1993
500
Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type. ( 8267011 )
1993
501
Growth hormone therapy in achondroplasia. ( 1632435 )
1992
502
Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. ( 1453438 )
1992
503
Chest wall deformity and respiratory distress in a 17-year-old patient with achondroplasia: CT and MRI evaluation. ( 1508600 )
1992
504
Achondroplasia: unusual bone abnormalities of the cervical spine. ( 1635629 )
1992
505
Stenosis of the spinal canal in achondroplasia. ( 1791130 )
1991
506
Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia. ( 1909491 )
1991
507
A clinical observation of achondroplasia. ( 1776446 )
1991
508
Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia? ( 1952787 )
1991
509
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. ( 1670752 )
1991
510
Middle ear disease in childhood achondroplasia. ( 1914954 )
1991
511
Achondroplasia and lumbar spinal stenosis. ( 1797731 )
1991
512
Leg lengthening: patient selection and management in achondroplasia. ( 1945337 )
1991
513
Growth-promoting effect of human growth hormone on patients with achondroplasia. ( 1785332 )
1991
514
Variation of quantitative and qualitative changes of enchondral ossification in heterozygous achondroplasia. ( 1906169 )
1991
515
Radiographic features of the bones of the hand and wrist in achondroplasia: report of case. ( 1939806 )
1991
516
Prediction of the growth in patients with achondroplasia. ( 1759634 )
1991
517
Foramen magnum decompression in infants with homozygous achondroplasia. ( 2303889 )
1990
518
Spinal dysraphism in achondroplasia. ( 2133408 )
1990
519
Extradural anaesthesia for caesarean section in achondroplasia. ( 2328185 )
1990
520
Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. ( 2384775 )
1990
521
Bes, Aesop and Morgante: reflections of achondroplasia. ( 2190719 )
1990
522
Apneustic breathing. A characteristic feature of brainstem compression in achondroplasia? ( 2323256 )
1990
523
The lungs and airways in achondroplasia. Do little people have little lungs? ( 2361382 )
1990
524
Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. ( 2293921 )
1990
525
The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. ( 2162805 )
1990
526
Neurologic morbidity associated with achondroplasia. ( 2161033 )
1990
527
Homozygous achondroplasia: morphologic and biochemical study of cartilage. ( 2260574 )
1990
528
Comparison of education and occupation of adults with achondroplasia with same-sex sibs. ( 2309765 )
1990
529
Growth of the foramen magnum in achondroplasia. ( 2773998 )
1989
530
Narrowing of thoraco-lumbar spinal canal in achondroplasia. ( 2677264 )
1989
531
Megalencephaly in thanatophoric dysplasia and in achondroplasia. ( 2585221 )
1989
532
Limb lengthening for achondroplasia: early experience. ( 2794023 )
1989
533
Foramen magnum decompression for homozygous achondroplasia. ( 2746357 )
1989
534
Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. ( 2786928 )
1989
535
MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. ( 2763957 )
1989
536
Human achondroplasia: defective mitochondrial oxidative energy metabolism may produce the pathophysiology. ( 2560262 )
1989
537
Foramen magnum decompression in an infant with homozygous achondroplasia. Case report. ( 2909672 )
1989
538
Development of pseudo-achondroplasia over a 30-year period in an adult patient. ( 2667861 )
1989
539
The prospective management of cervicomedullary compression in achondroplasia. ( 2697385 )
1989
540
Growth plate cartilage studies in achondroplasia. ( 3240287 )
1988
541
Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre Monitoring System for Birth Defects. ( 3071354 )
1988
542
Neurological considerations in achondroplasia. ( 3240245 )
1988
543
Achondroplasia in sibs of normal parents. ( 3236371 )
1988
544
Bone formation in achondroplasia. ( 3240240 )
1988
545
Extended laminectomy for spinal stenosis in achondroplasia. ( 3240261 )
1988
546
Achondroplasia: an altered GH control in post-receptorial chondrocyte cell sites? ( 3240242 )
1988
547
Social implications of achondroplasia--a public health review. ( 3240283 )
1988
548
Social implications of achondroplasia--a public health view. ( 3240282 )
1988
549
The psychodynamics of achondroplasia. ( 3240281 )
1988
550
Achondroplasia is not caused by mutation in the gene for type II collagen. ( 2899976 )
1988
551
Anatomy of the lumbar spine in achondroplasia. ( 3240258 )
1988
552
Human achondroplasia. A multidisciplinary approach. Proceedings of the first international symposium. November 19-21, 1986, Rome, Italy. Volume dedicated to Dr. Alexander Hollaender. ( 3071353 )
1988
553
Molecular studies in achondroplasia using Co12A1 probes. ( 3240285 )
1988
554
Relevant principles in the management of spinal disorders in achondroplasia. ( 3240264 )
1988
555
Limb lengthening in achondroplasia by Ilizarov's method. ( 3182120 )
1988
556
Radiologic features of achondroplasia. ( 3240266 )
1988
557
Leg lengthening in achondroplasia. ( 2896876 )
1988
558
Obesity in achondroplasia. ( 3228140 )
1988
559
Cervicomedullary cord compression in young children with achondroplasia: value of comprehensive neurologic and respiratory evaluation. ( 3240254 )
1988
560
Anaesthetic management of achondroplasia. ( 3377939 )
1988
561
Spirometry and chest wall dimensions in achondroplasia. ( 3338305 )
1988
562
Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. ( 3240272 )
1988
563
Metacarpophalangeal relations in 21 Danish patients with achondroplasia. ( 3342645 )
1988
564
Molecular genetic studies in achondroplasia. ( 2907290 )
1988
565
Achondroplasia--a clinician's viewpoint. ( 3071356 )
1988
566
Neurological basis of respiratory complications in achondroplasia. ( 3415202 )
1988
567
An analysis of referrals to a regional leg-lengthening service with special reference to achondroplasia. ( 3240276 )
1988
568
Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. ( 3046333 )
1988
569
Achondroplasia with ankylosing spondylitis. ( 3223492 )
1988
570
Otologic impairments in achondroplasia: a nosologic assessment. ( 3240244 )
1988
571
Kyphosis in achondroplasia: probably preventable. ( 3335958 )
1988
572
The unreliability of metacarpo-phalangeal profile (MPP) in the diagnosis of achondroplasia. ( 3240251 )
1988
573
Treatment of kyphosis and lumbar stenosis in achondroplasia. ( 3240263 )
1988
574
Strategies for limb lengthening in achondroplasia using the Ilizarov method--the experience of the hospital of Lecco, Italy. ( 3240274 )
1988
575
Audiologic findings in achondroplasia. ( 3240243 )
1988
576
Kyphosis and lumbar stenosis in achondroplasia. ( 3240265 )
1988
577
Orthopedic aspects of achondroplasia in children. ( 3240253 )
1988
578
Surgical treatment of kyphosis in achondroplasia. ( 3240260 )
1988
579
Cervicomedullary compression with achondroplasia. ( 3397808 )
1988
580
Clinical variability in achondroplasia. ( 3071355 )
1988
581
Histochemical and ultrastructural study of the growth plate in achondroplasia. ( 3240286 )
1988
582
Premutation in achondroplasia. ( 3240248 )
1988
583
The natural history of achondroplasia. ( 3071358 )
1988
584
CT of the temporal bone in achondroplasia. ( 3143244 )
1988
585
The skull in achondroplasia. ( 3240239 )
1988
586
Cytochrome a3 deficiency in human achondroplasia. ( 3030420 )
1987
587
Genetic counselling in unexpected familial recurrence of achondroplasia. ( 3688033 )
1987
588
Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. ( 3602395 )
1987
589
Reversibility of deficient sleep entrained growth hormone secretion in a boy with achondroplasia and obstructive sleep apnea. ( 3661058 )
1987
590
Mortality in achondroplasia. ( 3631079 )
1987
591
Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. ( 3425618 )
1987
592
Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. ( 3559799 )
1987
593
Achondroplasia: effectiveness of an orthosis in reducing deformity of the spine. ( 3592956 )
1987
594
Surgery for achondroplasia. Perioperative challenges of dwarfism. ( 3650052 )
1987
595
Achondroplasia-hypochondroplasia complex. ( 3591840 )
1987
596
Levels of creatine kinase activity in cartilage of tubular and nontubular bone in relation to pathogenesis of achondroplasia. ( 3581582 )
1987
597
Anaesthetic management of achondroplasia. ( 3942661 )
1986
598
A case report of achondroplasia. ( 3100179 )
1986
599
Achondroplasia and parental age. ( 3945286 )
1986
600
Speculation on the role of transposable elements in human genetic disease with particular attention to achondroplasia and the fragile X syndrome. ( 3006492 )
1986
601
In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements. ( 3517360 )
1986
602
Studies of human achondroplasia: oxidative metabolism in tissue culture cells. ( 3738813 )
1986
603
Foramen magnum stenosis in homozygous achondroplasia. ( 3816858 )
1986
604
Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. ( 3005580 )
1986
605
A morphometric analysis of the craniofacial configuration in achondroplasia. ( 3877092 )
1985
606
Nonrandom association of a type II procollagen genotype with achondroplasia. ( 2991928 )
1985
607
Familial recurrence of achondroplasia. ( 4061493 )
1985
608
Achondroplasia and obstructive sleep apnea: correction of apnea and abnormal sleep-entrained growth hormone release by tracheostomy. ( 4041579 )
1985
609
Apnea and sudden unexpected death in infants with achondroplasia. ( 6707788 )
1984
610
Apnea as the sole manifestation of cord compression in achondroplasia. ( 6707795 )
1984
611
Achondroplasia: unexpected familial recurrence. ( 6507475 )
1984
612
Brain tumor and achondroplasia: a case report and review of the literature. ( 6472587 )
1984
613
Long-term neurological sequelae in achondroplasia. ( 6510432 )
1984
614
Short-latency somatosensory evoked potentials in the management of patients with achondroplasia. ( 6540385 )
1984
615
Alternative explanations for recurrent achondroplasia in siblings of normal parents. ( 6733952 )
1984
616
"Unstable premutation" in achondroplasia: penetrance vs phenotrance. ( 6507476 )
1984
617
Achondroplasia and pregnancy. ( 6613102 )
1983
618
Homozygous achondroplasia with survival beyond infancy. ( 6660245 )
1983
619
Presumed homozygous achondroplasia. A review and report of a further case. ( 6359101 )
1983
620
Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents. ( 6627718 )
1983
621
Myelography in achondroplasia: value of a lateral C1-2 puncture and non-ionic, water-soluble contrast medium. ( 6611923 )
1983
622
Achondroplasia associated with obstructive sleep apnea. ( 6625996 )
1983
623
Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. ( 7298674 )
1981
624
Choanal atresia with achondroplasia. ( 7351612 )
1980
625
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. ( 458831 )
1979
626
Probable case of achondroplasia-hypochondroplasia compound. ( 4461068 )
1974
627
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. ( 4697848 )
1973
628
Significance of the small lumbar spinal canal: cauda equina compression syndromes due to spondylosis. 5. Achondroplasia. ( 5351762 )
1969
629
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. ( 4885523 )
1969
630
Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia. ( 13885465 )
1961

Variations for Achondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

71 (showing 3, show less)
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Gly375Cys VAR_004154 rs75790268
2 FGFR3 p.Gly380Arg VAR_004155 rs28931614
3 FGFR3 p.Lys650Met VAR_004161 rs121913105

ClinVar genetic disease variations for Achondroplasia:

6 (showing 6, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
2 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
3 FGFR3 NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys) single nucleotide variant Pathogenic rs75790268 GRCh37 Chromosome 4, 1806104: 1806104
4 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
5 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
6 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh37 Chromosome 4, 1803657: 1803657

Expression for Achondroplasia

Search GEO for disease gene expression data for Achondroplasia.

Pathways for Achondroplasia

Pathways related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 32, show less)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 BMP8B FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
2
Show member pathways
12.91 ACAN FGFR1 FGFR2 FGFR3 MAP2K1
3
Show member pathways
12.69 FGFR1 FGFR2 FGFR3 MAP2K1
4
Show member pathways
12.68 FGF3 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.57 FGF3 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.56 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
7 12.5 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
8
Show member pathways
12.44 FGF3 FGFR1 FGFR2 FGFR3
9 12.43 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
10
Show member pathways
12.39 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11 12.36 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
12
Show member pathways
12.35 FGFR1 FGFR2 FGFR3 MAP2K1
13 12.33 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
14
Show member pathways
12.29 FGFR1 FGFR2 FGFR3 MAP2K1
15
Show member pathways
12.25 FGF3 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.24 FGF3 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.13 FGF3 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.11 FGFR1 FGFR2 FGFR3 MAP2K1
19
Show member pathways
12.07 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
20
Show member pathways
12.06 FGFR1 FGFR2 FGFR3 MAP2K1
21
Show member pathways
11.96 FGF3 FGFR1 FGFR2 FGFR3
22 11.95 FGFR1 FGFR2 FGFR3
23 11.81 FGFR1 FGFR2 FGFR3 MAP2K1
24 11.71 FGFR1 FGFR2 FGFR3
25 11.66 FGFR1 FGFR3 SOX9
26 11.6 FGFR1 FGFR2 FGFR3 MAP2K1
27 11.47 FGFR1 FGFR2 FGFR3 SOX9
28 11.32 FGFR1 FGFR2 FGFR3
29 11.23 ACAN COMP
30 11.07 FGFR1 FGFR2 FGFR3 MAP2K1
31 10.96 FGFR1 MAP2K1
32 10.83 ACAN FGFR1 FGFR3 PTH1R SOX9

GO Terms for Achondroplasia

Cellular components related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 1, show less)
id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.23 ACAN BMP8B COMP FGF3 FGFR1 FGFR2

Biological processes related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 37, show less)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.94 MAP2K1 NPPC PTH1R SOX9
2 positive regulation of cell proliferation GO:0008284 9.91 FGF3 FGFR1 FGFR2 FGFR3 PTH1R SOX9
3 MAPK cascade GO:0000165 9.88 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
4 extracellular matrix organization GO:0030198 9.84 ACAN COMP SOX9
5 negative regulation of gene expression GO:0010629 9.84 FGFR1 MAP2K1 SOX9
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 FGFR2 FGFR3 MAP2K1
7 protein autophosphorylation GO:0046777 9.82 FGFR1 FGFR2 FGFR3
8 phosphatidylinositol-mediated signaling GO:0048015 9.81 FGF3 FGFR1 FGFR2 FGFR3
9 phosphatidylinositol phosphorylation GO:0046854 9.8 FGF3 FGFR1 FGFR2 FGFR3
10 positive regulation of MAPK cascade GO:0043410 9.78 FGFR1 FGFR2 FGFR3
11 ossification GO:0001503 9.76 BMP8B NPPC PTH1R SOX9
12 bone mineralization GO:0030282 9.72 FGFR2 FGFR3 PTH1R
13 peptidyl-tyrosine phosphorylation GO:0018108 9.72 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
14 fibroblast growth factor receptor signaling pathway GO:0008543 9.71 FGF3 FGFR1 FGFR2 FGFR3
15 positive regulation of mesenchymal cell proliferation GO:0002053 9.7 FGFR1 FGFR2 SOX9
16 midbrain development GO:0030901 9.67 FGFR1 FGFR2
17 positive regulation of cardiac muscle cell proliferation GO:0060045 9.67 FGFR1 FGFR2
18 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.67 FGF3 FGFR1 FGFR2 FGFR3
19 bone morphogenesis GO:0060349 9.65 FGFR2 FGFR3
20 ERK1 and ERK2 cascade GO:0070371 9.65 MAP2K1 SOX9
21 regulation of multicellular organism growth GO:0040014 9.65 FGFR2 NPPC
22 chondrocyte development GO:0002063 9.63 ACAN SOX9
23 branching involved in salivary gland morphogenesis GO:0060445 9.63 FGFR1 FGFR2
24 limb bud formation GO:0060174 9.62 FGFR2 SOX9
25 lung-associated mesenchyme development GO:0060484 9.62 FGFR1 FGFR2
26 mesenchymal cell differentiation GO:0048762 9.61 FGFR1 FGFR2
27 endochondral bone growth GO:0003416 9.6 FGFR2 FGFR3
28 lacrimal gland development GO:0032808 9.59 FGFR2 SOX9
29 otic vesicle formation GO:0030916 9.58 FGFR2 SOX9
30 prostate gland morphogenesis GO:0060512 9.58 FGFR2 SOX9
31 orbitofrontal cortex development GO:0021769 9.57 FGFR1 FGFR2
32 ventricular zone neuroblast division GO:0021847 9.56 FGFR1 FGFR2
33 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.56 FGF3 FGFR1 FGFR2 FGFR3
34 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.54 FGFR1 FGFR2
35 positive regulation of phospholipase activity GO:0010518 9.33 FGFR1 FGFR2 FGFR3
36 chondrocyte differentiation GO:0002062 9.26 FGFR1 FGFR3 PTH1R SOX9
37 skeletal system development GO:0001501 9.23 ACAN BMP8B COMP FGFR1 FGFR3 PTH1R

Molecular functions related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 10, show less)
id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.83 FGFR1 FGFR2 FGFR3 MAP2K1 SOX9
2 nucleotide binding GO:0000166 9.76 FGFR1 FGFR2 FGFR3 MAP2K1
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.67 FGF3 FGFR1 FGFR2 FGFR3
4 heparin binding GO:0008201 9.65 COMP FGFR1 FGFR2
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.56 FGF3 FGFR1 FGFR2 FGFR3
7 protein tyrosine kinase activity GO:0004713 9.55 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
8 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
9 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF3 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Achondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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